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Fast Facts About Canavan Disease

Posted Nov 19 2009 10:02pm

Canavan disease is one of the most common Ashkenazi Jewish genetic conditions. 1 in 40 Ashkenazi Jews are carriers of Canavan disease. As a result of this high carrier rate and the seriousness of the condition, the American College of Medical Genetics and the American College of Obstetrics and Gynecology recommend Canavan carrier screening for all Ashkenazi Jewish individuals before pregnancy. ( Here’s the ACMG statement )

  • Canavan disease characterized by developmental delay, a large size head, seizures, blindness, and gastrointestinal problems.
  • Genetic testing is available to determine if a person is a carrier of Canavan disease. Testing can identify about 97% of Ashkenazi Jewish carriers.
  • When two carriers have a child together, there is a 1 in 4 chance the child will have Canavan. (See autosomal recessive inheritance )
  • 1 in 5,000 Jews have Canavan disease. (With carrier screening, it’s likely that this number is shrinking.)
  • Canavan disease is caused by a deficiency of an enzyme, aspartoacylase. This enzyme is necessary for the maintenance of the myelin sheaths of nerve cells. Deficiency in the enzyme causes progressive degeneration of the central nervous system.
  • No treatment is currently available for Canavan disease.
  • Resources for Canavan disease: The Canavan Foundation, The Canavan Research Foundation, The United Leukodystrophy Foundation
  • More posts about Ashkenazi Jewish genetic conditions

Technorati Tags: canavan disease, ashkenazi jewish diseases, carrier testing, genetic testing, genes, inheritance patterns, symptoms, treatment, resources

This entry was posted on Tuesday, March 27th, 2007 at 11:03 am and is filed under Ashkenazi Jewish Diseases, Genetic Testing. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.

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